Mental retardation and inborn errors of metabolism.
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Mental retardation and inborn errors of metabolism. / García-Cazorla, A; Wolf, Nicole I; Serrano, M; Moog, U; Pérez-Dueñas, B; Póo, P; Pineda, M; Campistol, J; Hoffmann, G F.
In: J INHERIT METAB DIS, Vol. 32, No. 5, 5, 2009, p. 597-608.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Mental retardation and inborn errors of metabolism.
AU - García-Cazorla, A
AU - Wolf, Nicole I
AU - Serrano, M
AU - Moog, U
AU - Pérez-Dueñas, B
AU - Póo, P
AU - Pineda, M
AU - Campistol, J
AU - Hoffmann, G F
PY - 2009
Y1 - 2009
N2 - In countries where clinical phenylketonuria is detected by newborn screening inborn errors of metabolism are rare causes of isolated mental retardation. There is no international agreement about what type of metabolic tests must be applied in patients with unspecific mental retardation. However, and although infrequent, there are a number of inborn errors of metabolism that can present in this way. Because of the high recurrence risk and the possibility of specific therapies, guidelines need to be developed and adapted to different populations. The application of a universal protocol may result in a low diagnostic performance in individual ethnic populations. Consideration of associated signs (extraneurological manifestations, psychiatric signs, autistic traits, cerebellar dysfunction, epilepsy or dysmorphic traits) greatly improves the diagnostic fulfilment.
AB - In countries where clinical phenylketonuria is detected by newborn screening inborn errors of metabolism are rare causes of isolated mental retardation. There is no international agreement about what type of metabolic tests must be applied in patients with unspecific mental retardation. However, and although infrequent, there are a number of inborn errors of metabolism that can present in this way. Because of the high recurrence risk and the possibility of specific therapies, guidelines need to be developed and adapted to different populations. The application of a universal protocol may result in a low diagnostic performance in individual ethnic populations. Consideration of associated signs (extraneurological manifestations, psychiatric signs, autistic traits, cerebellar dysfunction, epilepsy or dysmorphic traits) greatly improves the diagnostic fulfilment.
KW - Humans
KW - Practice Guidelines as Topic
KW - Algorithms
KW - Infant, Newborn
KW - Metabolism, Inborn Errors complications
KW - Mental Retardation diagnosis
KW - Neonatal Screening methods
KW - Humans
KW - Practice Guidelines as Topic
KW - Algorithms
KW - Infant, Newborn
KW - Metabolism, Inborn Errors complications
KW - Mental Retardation diagnosis
KW - Neonatal Screening methods
M3 - SCORING: Zeitschriftenaufsatz
VL - 32
SP - 597
EP - 608
JO - J INHERIT METAB DIS
JF - J INHERIT METAB DIS
SN - 0141-8955
IS - 5
M1 - 5
ER -